4UU5
23418
170788
ENSG00000134376
ENSMUSG00000063681
P82279
Q8VHS2
NM_001193640NM_001257965NM_001257966NM_012076NM_201253
NM_133239
NP_001180569NP_001244894NP_001244895NP_957705
NP_573502
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.[5][6][7]
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila, crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.[7] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.[8]
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